Lancashire schoolgirl Aleasha is a medical mystery

Susan Plunkett

A little girl from Lancashire is just one of 89 cases worldwide to be diagnosed with a genetic condition so rare it does not even have a name.

Aleasha Howcroft was diagnosed with the rare syndrome at the age of eight after her mum, Kirsty, sensed there was something wrong with her daughter.

Kirsty Howcroft with her medical mystery daughter Aleasha Howcroft.

Kirsty said: "She had already been diagnosed with Attention Deficit Hyperactivity Disorder but I just felt there was something else not right with Aleasha and there was more to it than just that.

"It was just a feeling I had and I knew I was right to trust my instincts."

Thanks to Kirsty's tenacity, Aleasha was referred to the Rainbow Centre at Burnley General Hospital where a paediatrician carried out a blood test.

And the bombshell news that the chestnut haired tomboy has a syndrome known only as 16p13.11 was broken to the family. But for Kirsty it was huge relief that her instincts had proved right.

She said: "At least we knew there was more than the ADHD which is what I had suspected all along.

"It was a relief in a way and once we knew what we were dealing with it meant we could just get on with our lives."

In simple terms the diagnosis means that part of Aleasha's 16th chromosome is missing some material essential for her development. But because so little is known about the condition there are numerous ways it can affect children. And doctors are discovering all the different side and long term effects as they carry out more research into it.

For Aleasha it means she is small for her age and her learning ability is affected. She also suffers from intense anxiety which resulted in Kirsty making the decision to take Aleasha out of mainstream school.

Kirsty said: "Every night she would complain that she felt sick and she didn't want to go to school the next day.

"It got to the point where the teachers were coming to our home to take her there. She was so unhappy and in the end I just said I couldn't carry on like that. Also she wasn't learning anything in the classroom because she couldn't cope with the work and being in the classroom situation."

It was the best decision Kirsty (37) and her partner, Carl Stevens, made as Aleasha is now a chatty, happy and lively little girl who is bright as a button and brimming with energy. Her condition is monitored with six monthly visits to the paediatrician.

Kirsty laughed: "For the first five years of her life Aleasha didn't speak, but now we can't shut her up."

The family, including Aleasha's older brother, Euan, are now planning to move to a larger home in the Padiham Road area of the town where a room can be converted into a mini classroom for Aleasha where Kirsty will home school her.

Kirsty said: "We are really excited about it and I have already started planning lessons and all the different things we are going to do.

"I believe that if Aleasha finds something she likes and she can do it that will be the way forward for her."

A talented little sportswoman who loves boxing and playing football, Aleasha also loves drawing and animals, particularly cows, tigers and chickens. She is fully aware of her condition and takes it in her stride.

Kirsty said: "She is bright and doesn't miss a trick."

Aleasha even has a little job... blowing up balloons for her mum's business, Arti Parti children's entertainment.

And working for herself means that Kirsty can fit in her work around teaching Aleasha.

The family have received a lot of support from Unique, the UK's only national charity for families affected by rarer chromosome and genomic disorders.

The charity, which was founded in 1984 with just three families, now supports a database of 15,500 members with different disorders but there are 89 with the same condition as Aleasha who is currently undergoing tests for autism.

Unique exists to inform, support and alleviate the isolation of anyone born sick and disabled with any chromosome disorder, their families and the professionals working with them.

The charity links families together living with similar conditions so they can share their experiences and offer help, support and advice to each other.

An Awareness Week was held recently calling for greater understanding of the daily struggles children and their families face. And Kirsty supported the initiative in a bid to raise awareness of the genetic disorders.

Kirsty said: "Aleasha is such a happy little girl, she just accepts everything and gets on with her life.

"We are looking forward to moving to a new home and making a new start, it will be a new adventure for us."